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2005 3
2006 4
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2011 8
2012 3
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Page 1
Pendred syndrome.
Wémeau JL, Kopp P. Wémeau JL, et al. Best Pract Res Clin Endocrinol Metab. 2017 Mar;31(2):213-224. doi: 10.1016/j.beem.2017.04.011. Epub 2017 May 10. Best Pract Res Clin Endocrinol Metab. 2017. PMID: 28648509 Review.
Pendred syndrome is an autosomal recessive disorder that is classically defined by the combination of sensorineural deafness/hearing impairment, goiter, and an abnormal organification of iodide with or without hypothyroidism. ...While there is no renal phenotype und
Pendred syndrome is an autosomal recessive disorder that is classically defined by the combination of sensorineural deafness/h
Pendred syndrome.
Glaser B. Glaser B. Pediatr Endocrinol Rev. 2003 Dec;1 Suppl 2:199-204; discussion 204. Pediatr Endocrinol Rev. 2003. PMID: 16444159 Review.
Pendred Syndrome, first described in 1896, is phenotypically characterized as the coexistence of sensorineural deafness and enlarged goiter with elevated iodine discharge after perchlorate administration. ...The pathophysiology of the hearing loss associated with
Pendred Syndrome, first described in 1896, is phenotypically characterized as the coexistence of sensorineural deafness and en
Pendred syndrome.
Reardon W, Trembath RC. Reardon W, et al. J Med Genet. 1996 Dec;33(12):1037-40. doi: 10.1136/jmg.33.12.1037. J Med Genet. 1996. PMID: 9004139 Free PMC article. Review. No abstract available.
Syndromic Hearing Loss in Children.
Lewis M, Robson CD, D'Arco F. Lewis M, et al. Neuroimaging Clin N Am. 2023 Nov;33(4):563-580. doi: 10.1016/j.nic.2023.05.007. Epub 2023 Jul 4. Neuroimaging Clin N Am. 2023. PMID: 37741658 Review.
Pendrin: linking acid base to blood pressure.
Brazier F, Cornière N, Picard N, Chambrey R, Eladari D. Brazier F, et al. Pflugers Arch. 2024 Apr;476(4):533-543. doi: 10.1007/s00424-023-02897-7. Epub 2023 Dec 19. Pflugers Arch. 2024. PMID: 38110744 Review.
Pendrin (SLC26A4) is an anion exchanger from the SLC26 transporter family which is mutated in human patients affected by Pendred syndrome, an autosomal recessive disease characterized by sensoneurinal deafness and hypothyroidism. ...
Pendrin (SLC26A4) is an anion exchanger from the SLC26 transporter family which is mutated in human patients affected by Pendred s
Genetics and phenomics of Pendred syndrome.
Bizhanova A, Kopp P. Bizhanova A, et al. Mol Cell Endocrinol. 2010 Jun 30;322(1-2):83-90. doi: 10.1016/j.mce.2010.03.006. Epub 2010 Mar 15. Mol Cell Endocrinol. 2010. PMID: 20298745 Review.
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural deafness, goiter and a partial defect in iodide organification. Goiter development and hypothyroidism vary and appear to depend on nutritional iodide intake. Pendred syndrom
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural deafness, goiter and a partial defect in io
Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome.
Dossena S, Rodighiero S, Vezzoli V, Nofziger C, Salvioni E, Boccazzi M, Grabmayer E, Bottà G, Meyer G, Fugazzola L, Beck-Peccoz P, Paulmichl M. Dossena S, et al. J Mol Endocrinol. 2009 Sep;43(3):93-103. doi: 10.1677/JME-08-0175. Epub 2009 Jul 16. J Mol Endocrinol. 2009. PMID: 19608655 Review.
Pendred syndrome (PS) is the most frequent form of genetically related syndromic hearing loss, and is associated with mutations of pendrin, encoded by the SLC26A4 gene. ...
Pendred syndrome (PS) is the most frequent form of genetically related syndromic hearing loss, and is associated with mutation
Pendred syndrome and iodide transport in the thyroid.
Kopp P, Pesce L, Solis-S JC. Kopp P, et al. Trends Endocrinol Metab. 2008 Sep;19(7):260-8. doi: 10.1016/j.tem.2008.07.001. Epub 2008 Aug 7. Trends Endocrinol Metab. 2008. PMID: 18692402 Review.
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing impairment, presence of goiter, and a partial defect in iodide organification, which may be associated with insufficient thyroid hormone synthesis. Goiter development and deve
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing impairment, presence of goiter, and
[Genetic deafness].
Marcolla A, Bouchetemble P, Lerosey Y, Marie JP, Dehesdin D. Marcolla A, et al. Ann Otolaryngol Chir Cervicofac. 2006 Jun;123(3):143-7. doi: 10.1016/s0003-438x(06)76655-5. Ann Otolaryngol Chir Cervicofac. 2006. PMID: 16840903 Review. French.
RESULTS: Genetic sensorineural syndromic deafness represents 30% of cases of genetic deafness. A frequent cause is Pendred syndrome, which associates congenital sensorineural deafness with goitre and malformations of the inner ear which can be identified on computed …
RESULTS: Genetic sensorineural syndromic deafness represents 30% of cases of genetic deafness. A frequent cause is Pendred syndrom
Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss.
Honda K, Griffith AJ. Honda K, et al. Hum Genet. 2022 Apr;141(3-4):455-464. doi: 10.1007/s00439-021-02311-1. Epub 2021 Aug 3. Hum Genet. 2022. PMID: 34345941 Review.
Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a transmembrane exchanger of anions and bases. ...A thyroid iodine organification defect can lead to multinodular g …
Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and nonsyndromic recessive hearing loss DFNB4. …
56 results